HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652159G>A , CM000674.2:g.52652159G>A | GRCh38 |
NC_000012.11:g.53045943G>A , CM000674.1:g.53045943G>A | GRCh37 |
NC_000012.10:g.51332210G>A | NCBI36 |
NG_008296.1:g.5017C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.-17C>T MANE Select | ENSP00000310861.3:n.-17C>T | |
ENST00000309680.3:c.-17C>T | ENSP00000310861.3:n.-17C>T | |
NM_000423.2:c.-17C>T | NP_000414.2:n.-17C>T | |
NM_000423.3:c.-17C>T MANE Select | NP_000414.2:n.-17C>T |